ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val)

dbSNP: rs747656987
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197444 SCV000249859 uncertain significance not provided 2024-07-12 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV002229067 SCV001198123 benign Ehlers-Danlos syndrome, classic type, 1 2025-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345698 SCV002650543 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-29 criteria provided, single submitter clinical testing The p.A1823V variant (also known as c.5468C>T), located in coding exon 66 of the COL5A1 gene, results from a C to T substitution at nucleotide position 5468. The alanine at codon 1823 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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